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NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000881549.2
Variation ID:
881549
Description:
single nucleotide variant
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NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)

Allele ID
869211
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109561800 (GRCh38) GRCh38 UCSC
12: 109999605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.109999605G>A
NC_000012.12:g.109561800G>A
NM_052845.4:c.401C>T MANE Select NP_443077.1:p.Ser134Leu missense
... more HGVS
Protein change
S134L
Other names
-
Canonical SPDI
NC_000012.12:109561799:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jan 13, 2018 RCV001110623.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMAB - - GRCh38
GRCh37
319 355

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001268085.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 21, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria cblB type
Allele origin: germline
Natera, Inc.
Accession: SCV001467011.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 27, 2021